Screening for Mutations in CYP4V2 Gene in Japanese Patients With Bietti’s Crystalline Corneoretinal Dystrophy

To describe the clinical and genetic characteristics of six Japanese families with Bietti’s crystalline corneoretinal dystrophy (BCD). Case reports and results of DNA analysis. Mutation screening was performed on six unrelated patients with BCD by direct sequencing. The clinical features were charac...

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Veröffentlicht in:American journal of ophthalmology 2005-05, Vol.139 (5), p.894-899
Hauptverfasser: Wada, Yuko, Itabashi, Toshitaka, Sato, Hajime, Kawamura, Miyuki, Tada, Asako, Tamai, Makoto
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Sprache:eng
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